Moscoso Ana, Julien Aurélie, Tanet Antoine, Consoli Angèle, Pagnard Martine, Trevisan France, Kemlin Isabelle, Rodriguez Diana, Cohen David
Department of Child and Adolescent Psychiatry, Robert Debré Hospital, Paris, France.
Department of Child and Adolescent Psychiatry, Reference Center for Rare Psychiatric Diseases, APHP, Groupe Hospitalier Pitié-Salpêtrière, Université Sorbonne, Paris, France.
Case Rep Psychiatry. 2019 Dec 31;2019:4764031. doi: 10.1155/2019/4764031. eCollection 2019.
Cognitive and behavioural problems associated with Neurofibromatosis type 1 (NF1) are common sources of distress and the reasons behind seeking help. Here we describe patients with NF1 or NF1-like phenotypes referred to a Tier 3 Child and Adolescent Psychiatry Department and highlight the benefits of a multidisciplinary assessment.
Prospective data were gathered from NF1 patients aged 7-15 years, referred by the NF1 Referral Centre due to additional difficulties either in management or diagnosis. For the selected cases, we performed a psychiatric assessment, a tailored neuropsychological evaluation based on clinical demands and history, broad speech and motor skills evaluations if there were concerns regarding language, motor abilities and/or learning difficulties and autism specific evaluations, if clinically relevant. No exclusion criteria were applied.
Complex NF1 cases represented only 5% of the patients (11/224). Assessments revealed the complexity of NF1 phenotype and a variety of problems including learning difficulties, emotional problems and autism spectrum disorders. Specific evaluations of language, motor, attentional and neurovisual domains were essential to guide tailored intervention strategies.
In terms of clinical implications, the heterogeneity of NF1 phenotypical manifestations needs to be considered when developing assessment and remediation approaches for children with complex NF1.
与1型神经纤维瘤病（NF1）相关的认知和行为问题是困扰的常见来源及寻求帮助的原因。在此，我们描述转诊至三级儿童和青少年精神科的NF1或NF1样表型患者，并强调多学科评估的益处。
前瞻性数据收集自7至15岁的NF1患者，这些患者由NF1转诊中心因管理或诊断方面的额外困难而转诊。对于选定病例，我们进行了精神科评估、基于临床需求和病史的定制神经心理学评估、如果对语言、运动能力和/或学习困难存在担忧则进行广泛的言语和运动技能评估，以及如果临床相关则进行自闭症特异性评估。未应用排除标准。
复杂NF1病例仅占患者的5%（11/224）。评估揭示了NF1表型的复杂性以及包括学习困难、情绪问题和自闭症谱系障碍在内的各种问题。对语言、运动、注意力和神经视觉领域的特异性评估对于指导定制干预策略至关重要。
在临床意义方面，为患有复杂NF1的儿童制定评估和补救方法时，需要考虑NF1表型表现的异质性。
